Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs546968533
rs546968533
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C3808977
Disease:
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 		0.800 GeneticVariation UNIPROT Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. 22892528 2013
dbSNP: rs7322916
rs7322916
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0013473
Disease:
Eating Disorders 		G 0.800 GeneticVariation GWASDB Genetic variants associated with disordered eating. 23568457 2013
dbSNP: rs7322916
rs7322916
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0013473
Disease:
Eating Disorders 		G 0.800 GeneticVariation GWASCAT Genetic variants associated with disordered eating. 23568457 2013
dbSNP: rs546968533
rs546968533
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C3808977
Disease:
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 		G 0.800 CausalMutation CLINVAR
dbSNP: rs4770891
rs4770891
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C1281901
Disease:
Fatty acid measurement 		0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis of circulating odd-numbered chain saturated fatty acids: Results from the CHARGE Consortium. 29738550 2018
dbSNP: rs7335338
rs7335338
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C1281901
Disease:
Fatty acid measurement 		A 0.700 GeneticVariation GWASCAT Multiplex genomewide association analysis of breast milk fatty acid composition extends the phenotypic association and potential selection of FADS1 variants to arachidonic acid, a critical infant micronutrient. 29514873 2018
dbSNP: rs1156904586
rs1156904586
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0026650
Disease:
Movement Disorders 		CT 0.700 CausalMutation CLINVAR A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. 28454995 2017
dbSNP: rs1156904586
rs1156904586
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0026827
Disease:
Muscle hypotonia 		CT 0.700 CausalMutation CLINVAR A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. 28454995 2017
dbSNP: rs3117848
rs3117848
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs3117849
rs3117849
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs3132364
rs3132364
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs9553651
rs9553651
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1156904586
rs1156904586
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0026827
Disease:
Muscle hypotonia 		CT 0.700 CausalMutation CLINVAR New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. 27679995 2016
dbSNP: rs1156904586
rs1156904586
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0026650
Disease:
Movement Disorders 		CT 0.700 CausalMutation CLINVAR New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. 27679995 2016
dbSNP: rs1156904586
rs1156904586
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0026650
Disease:
Movement Disorders 		CT 0.700 CausalMutation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979 2015
dbSNP: rs1156904586
rs1156904586
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0026827
Disease:
Muscle hypotonia 		CT 0.700 CausalMutation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979 2015
dbSNP: rs1156904586
rs1156904586
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0026827
Disease:
Muscle hypotonia 		CT 0.700 CausalMutation CLINVAR Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. 22892528 2013
dbSNP: rs1156904586
rs1156904586
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0026650
Disease:
Movement Disorders 		CT 0.700 CausalMutation CLINVAR Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. 22892528 2013
dbSNP: rs7322916
rs7322916
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0029587
Disease:
Other eating disorders 		G 0.700 GeneticVariation GWASCAT Genetic variants associated with disordered eating. 23568457 2013
dbSNP: rs10162249
rs10162249
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0036202
Disease:
Sarcoidosis 		0.700 GeneticVariation GWASDB Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility. 22952805 2012
dbSNP: rs10467674
rs10467674
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0036202
Disease:
Sarcoidosis 		0.700 GeneticVariation GWASDB Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility. 22952805 2012
dbSNP: rs112198380
rs112198380
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0036202
Disease:
Sarcoidosis 		0.700 GeneticVariation GWASDB Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility. 22952805 2012
dbSNP: rs1156904586
rs1156904586
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0026650
Disease:
Movement Disorders 		CT 0.700 CausalMutation CLINVAR Mutations in a P-type ATPase gene cause axonal degeneration. 22912588 2012
dbSNP: rs1156904586
rs1156904586
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0026827
Disease:
Muscle hypotonia 		CT 0.700 CausalMutation CLINVAR Mutations in a P-type ATPase gene cause axonal degeneration. 22912588 2012
dbSNP: rs12020004
rs12020004
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0036202
Disease:
Sarcoidosis 		0.700 GeneticVariation GWASDB Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility. 22952805 2012